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Two rare mutations in homozygosity synergize to silence TREX1 in Aicardi-Goutières syndrome.

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Title: Two rare mutations in homozygosity synergize to silence TREX1 in Aicardi-Goutières syndrome.
Authors: Rubin T; Section of Pediatric Clinical Immunology and Allergy, Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, MB, Canada., Bernier S; IMMUNO-GRAM (Infection and IMMunity Genetic Research to Advance Molecular Medicine) Center of Reference, Research Institute - McGill University Health Centre, Montreal, QC, Canada., Hoon Lim LS; Section of Pediatric Rheumatology, Department of Pediatrics and Child Health, Children's Hospital Research Institute of Manitoba, University of Manitoba, Winnipeg, MB, Canada., Salman MS; Section of Pediatric Neurology, Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, MB, Canada., Leung E; Section of Pediatric Neurology, Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, MB, Canada., Mhanni A; Section of Genetics and Metabolism, Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, MB, Canada., Marles S; Section of Genetics and Metabolism, Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, MB, Canada., Greenberg C; Section of Genetics and Metabolism, Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, MB, Canada., Perez A; IMMUNO-GRAM (Infection and IMMunity Genetic Research to Advance Molecular Medicine) Center of Reference, Research Institute - McGill University Health Centre, Montreal, QC, Canada., Sun Y; IMMUNO-GRAM (Infection and IMMunity Genetic Research to Advance Molecular Medicine) Center of Reference, Research Institute - McGill University Health Centre, Montreal, QC, Canada., Angers I; IMMUNO-GRAM (Infection and IMMunity Genetic Research to Advance Molecular Medicine) Center of Reference, Research Institute - McGill University Health Centre, Montreal, QC, Canada., Vinh DC; IMMUNO-GRAM (Infection and IMMunity Genetic Research to Advance Molecular Medicine) Center of Reference, Research Institute - McGill University Health Centre, Montreal, QC, Canada.; Department of Medicine (Division of Infectious Diseases), McGill University Health Centre, Montreal, QC, Canada.; Department of OptiLab (Division of Medical Microbiology, Division of Molecular Genetics-Immunology), McGill University Health Centre, Montreal, QC, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada., Roussel L; IMMUNO-GRAM (Infection and IMMunity Genetic Research to Advance Molecular Medicine) Center of Reference, Research Institute - McGill University Health Centre, Montreal, QC, Canada.
Source: Frontiers in immunology [Front Immunol] 2025 Feb 21; Vol. 16, pp. 1557632. Date of Electronic Publication: 2025 Feb 21 (Print Publication: 2025).
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101560960 Publication Model: eCollection Cited Medium: Internet ISSN: 1664-3224 (Electronic) Linking ISSN: 16643224 NLM ISO Abbreviation: Front Immunol Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Two rare mutations in homozygosity synergize to silence TREX1 in Aicardi-Goutières syndrome.
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  Data: <searchLink fieldCode="AU" term="%22Rubin+T%22">Rubin T</searchLink>; Section of Pediatric Clinical Immunology and Allergy, Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, MB, Canada.<br /><searchLink fieldCode="AU" term="%22Bernier+S%22">Bernier S</searchLink>; IMMUNO-GRAM (Infection and IMMunity Genetic Research to Advance Molecular Medicine) Center of Reference, Research Institute - McGill University Health Centre, Montreal, QC, Canada.<br /><searchLink fieldCode="AU" term="%22Hoon+Lim+LS%22">Hoon Lim LS</searchLink>; Section of Pediatric Rheumatology, Department of Pediatrics and Child Health, Children's Hospital Research Institute of Manitoba, University of Manitoba, Winnipeg, MB, Canada.<br /><searchLink fieldCode="AU" term="%22Salman+MS%22">Salman MS</searchLink>; Section of Pediatric Neurology, Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, MB, Canada.<br /><searchLink fieldCode="AU" term="%22Leung+E%22">Leung E</searchLink>; Section of Pediatric Neurology, Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, MB, Canada.<br /><searchLink fieldCode="AU" term="%22Mhanni+A%22">Mhanni A</searchLink>; Section of Genetics and Metabolism, Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, MB, Canada.<br /><searchLink fieldCode="AU" term="%22Marles+S%22">Marles S</searchLink>; Section of Genetics and Metabolism, Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, MB, Canada.<br /><searchLink fieldCode="AU" term="%22Greenberg+C%22">Greenberg C</searchLink>; Section of Genetics and Metabolism, Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, MB, Canada.<br /><searchLink fieldCode="AU" term="%22Perez+A%22">Perez A</searchLink>; IMMUNO-GRAM (Infection and IMMunity Genetic Research to Advance Molecular Medicine) Center of Reference, Research Institute - McGill University Health Centre, Montreal, QC, Canada.<br /><searchLink fieldCode="AU" term="%22Sun+Y%22">Sun Y</searchLink>; IMMUNO-GRAM (Infection and IMMunity Genetic Research to Advance Molecular Medicine) Center of Reference, Research Institute - McGill University Health Centre, Montreal, QC, Canada.<br /><searchLink fieldCode="AU" term="%22Angers+I%22">Angers I</searchLink>; IMMUNO-GRAM (Infection and IMMunity Genetic Research to Advance Molecular Medicine) Center of Reference, Research Institute - McGill University Health Centre, Montreal, QC, Canada.<br /><searchLink fieldCode="AU" term="%22Vinh+DC%22">Vinh DC</searchLink>; IMMUNO-GRAM (Infection and IMMunity Genetic Research to Advance Molecular Medicine) Center of Reference, Research Institute - McGill University Health Centre, Montreal, QC, Canada.; Department of Medicine (Division of Infectious Diseases), McGill University Health Centre, Montreal, QC, Canada.; Department of OptiLab (Division of Medical Microbiology, Division of Molecular Genetics-Immunology), McGill University Health Centre, Montreal, QC, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada.<br /><searchLink fieldCode="AU" term="%22Roussel+L%22">Roussel L</searchLink>; IMMUNO-GRAM (Infection and IMMunity Genetic Research to Advance Molecular Medicine) Center of Reference, Research Institute - McGill University Health Centre, Montreal, QC, Canada.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Frontiers+Research+Foundation]%22">Frontiers Research Foundation] </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101560960 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Internet <i>ISSN: </i>1664-3224 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2216643224%22">16643224 </searchLink><i>NLM ISO Abbreviation: </i>Front Immunol <i>Subsets: </i>MEDLINE
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